Canonical Allele Identifier: CA348647649

Gene: ACMSD

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.134845251T>A , CM000664.2:g.134845251T>A	GRCh38
NC_000002.11:g.135602821T>A , CM000664.1:g.135602821T>A	GRCh37
NC_000002.10:g.135319291T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356140.10:c.76T>A MANE Select	ENSP00000348459.5:p.Trp26Arg
ENST00000356140.9:c.76T>A	ENSP00000348459.5:p.Trp26Arg
ENST00000392928.5:c.-49T>A	ENSP00000376659.1:n.-49T>A
ENST00000485893.5:n.143T>A
ENST00000498093.1:n.68T>A
NM_001307983.1:c.-49T>A	NP_001294912.1:n.-49T>A
NM_138326.2:c.76T>A	NP_612199.2:p.Trp26Arg
XM_005263586.3:c.76T>A	XP_005263643.1:p.Trp26Arg
XM_005263588.3:c.-49T>A	XP_005263645.1:n.-49T>A
XM_005263589.3:c.-111T>A	XP_005263646.1:n.-111T>A
XM_011510592.1:c.-49T>A	XP_011508894.1:n.-49T>A
XM_005263586.4:c.76T>A	XP_005263643.1:p.Trp26Arg
XM_005263588.4:c.-49T>A	XP_005263645.1:n.-49T>A
XM_005263589.4:c.-111T>A	XP_005263646.1:n.-111T>A
XM_011510592.2:c.-49T>A	XP_011508894.1:n.-49T>A
XM_017003325.1:c.-49T>A	XP_016858814.1:n.-49T>A
XM_017003326.1:c.-49T>A	XP_016858815.1:n.-49T>A
XM_024452690.1:c.-111T>A	XP_024308458.1:n.-111T>A
XM_024452691.1:c.-111T>A	XP_024308459.1:n.-111T>A
NM_138326.3:c.76T>A MANE Select	NP_612199.2:p.Trp26Arg
NM_001307983.2:c.-49T>A	NP_001294912.1:n.-49T>A